100
Articles
3.9K
Citations
3.6
avg. Impact Factor
27
h-index

Most Cited Articles of Department of Pediatrics

TitleJournalYearCitations
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation studyLancet, The20121.5K
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingNature Genetics2014376
p53 regulates a G2 checkpoint through cyclin B1Proceedings of the National Academy of Sciences of the United States of America1999366
NADPH oxidase is an O2 sensor in airway chemoreceptors: evidence from K+ current modulation in wild-type and oxidase-deficient miceProceedings of the National Academy of Sciences of the United States of America2000168
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityScience Translational Medicine2010140
Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cellsHuman Gene Therapy200080
Effect of the delta-aminolevulinate dehydratase polymorphism on the accumulation of lead in bone and blood in lead smelter workersEnvironmental Research199870
Relationship of anti-60 kDa heat shock protein and anti-cholesterol antibodies to cardiovascular eventsCirculation200263
Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics StudyCirculation: Cardiovascular Genetics200954
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencingNeurology201453
Correction of chromosomal mutation and random integration in embryonic stem cells with helper-dependent adenoviral vectorsProceedings of the National Academy of Sciences of the United States of America200553
Functional domains of the 50S subunit mature late in the assembly processNucleic Acids Research201447
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationAmerican Journal of Human Genetics201845
Causal relationship between adiponectin and metabolic traits: a Mendelian randomization study in a multiethnic populationPLoS ONE201344
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationAmerican Journal of Human Genetics201743
Disruption of pulmonary lipid homeostasis drives cigarette smoke-induced lung inflammation in miceEuropean Respiratory Journal201541
Atlantoaxial Instability in Individuals With Down Syndrome: A Fresh Look at the EvidencePediatrics198838
Familial breast cancer in males. A case report and review of the literatureCancer198636
Neural Cell Adhesion Protein CNTN1 Promotes the Metastatic Progression of Prostate CancerCancer Research201635
Persistence of pulmonary tertiary lymphoid tissues and anti-nuclear antibodies following cessation of cigarette smoke exposureRespiratory Research201434
EPIDEMIOLOGY OF MONGOLISM: THE MANITOBA STUDY*Annals of the New York Academy of Sciences197034
Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophyAmerican Journal of Medical Genetics Part A198933
Correlations in the population structure of music, genes and languageProceedings of the Royal Society B: Biological Sciences201432
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literatureAmerican Journal of Medical Genetics, Part A201032
Myogenic NOS in canine lower esophageal sphincter: enzyme activation, substrate recycling, and product actionsAmerican Journal of Physiology - Cell Physiology199832